Detalhe da pesquisa
1.
Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
Neurogenetics
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625442
2.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
J Med Genet
; 61(1): 93-101, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734847
3.
Genomic tools for durum wheat breeding: de novo assembly of Svevo transcriptome and SNP discovery in elite germplasm.
BMC Genomics
; 20(1): 278, 2019 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30971220
4.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Brain
; 146(9): e67-e70, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913248
5.
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm.
J Neuroophthalmol
; 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381526
6.
Genome-wide association study on stem rust resistance in Kazakh spring barley lines.
BMC Plant Biol
; 16 Suppl 1: 6, 2016 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26821649
7.
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Am J Ophthalmol
; 262: 114-124, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278202
8.
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report.
Front Genet
; 14: 1322067, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152653
9.
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Front Genet
; 13: 953762, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36419830
10.
The Global Durum Wheat Panel (GDP): An International Platform to Identify and Exchange Beneficial Alleles.
Front Plant Sci
; 11: 569905, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408724
11.
Durum wheat genome highlights past domestication signatures and future improvement targets.
Nat Genet
; 51(5): 885-895, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962619
12.
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
J Neurol
; 270(1): 559-564, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066624
13.
Fine-scale spatial genetic structure in predominantly selfing plants with limited seed dispersal: A rule or exception?
Plant Divers
; 38(2): 59-64, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30159450
14.
Role of phenotypic plasticity and population differentiation in adaptation to novel environmental conditions.
Ecol Evol
; 5(17): 3818-29, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26380708
15.
Multi-approaches analysis reveals local adaptation in the emmer wheat (Triticum dicoccoides) at macro- but not micro-geographical scale.
PLoS One
; 10(3): e0121153, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25793512